Cystinosis Information

Dr. Gahl from the National Institutes of Health (NIH)

I am a survivor of Cystinosis. I was born with Cystinosis and diagnosed around age 10 months. Cystinosis is a metabolic disease that causes cells to crystallize causing early cell death. This happens because the amino acid cysteine accumulates in the cells, but has no transporter out. Cystinosis slowly destroys the organs in the body including the kidneys, liver, eyes, muscles, and brain. Cystinosis has always been a struggle for me and my friends, and family. It continues to be a struggle. My disease has caused a lot of trauma to my friends, family, and myself. I know that it must have been very difficult for my family to learn that their child has an incurable disease that will eventually take hir life. I personally cannot comprehend how they could have handled getting that news. I am currently, in a clinical research trial a the National Institutes of Health (NIH) in Bethesda, Maryland with Dr. William Gahl. With the trial, I take oral Cysteamine (Cystagon) four times a day and Cysteamine eye drops which were recently approved by the U.S. Food and Drug Administration (FDA). This trial helps researchers learn how to best treat Cystinosis and the long-term effects of Cystinosis on the body. Dr. William Gahl is the lead researcher on Cystinosis at the NIH and I have been in his trial since 1992. Cystinosis affects about 1 in 100,000 to 200,000 newborns worldwide. There are several type of Cystinosis and I have Nephropathic Cystinosis. This type of Cystinosis usually begins in infancy, where it causes poor growth and kidney damage (renal Fanconi syndrome) where molecules that should be reabsorbed into the blood are instead eliminated in the urine. This leads to the loss of important minerals, salts, fluids, and many nutrients. This loss impairs growth and many patients with Cystinosis result in soft, bowed bones (hypophosphatemic rickets). This imbalance in the body leads to increased urination, thirst, dehydration, and abnormally acidic blood (acidosis). By about age two, cysteine crystals may be present in the clear covering of the eye (cornea). This buildup of these crystals causes pain and increased sensitivity to light (photophobia). If left untreated children will experience complete kidney failure by about age 10 years. While Cystinosis mainly affects the eyes and kidneys, it also causes muscle deterioration, inability to swallow, diabetes, and thyroid and nervous system problems. (Genetics home reference at the NIH)